A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15906742



Internal ID5908558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:63831255..63986077hg38UCSC Ensembl
chr18:61498489..61653311hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg38154823
hg19154823
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642785
Supporting Variants
SamplesNA19114
Known GenesHMSD, SERPINB10, SERPINB2, SERPINB8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15906742
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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